Executive Director and Investigator, BC Children's Hospital Research InstituteAssociate Dean for Research, Faculty of Medicine, University of British ColumbiaSenior Scientist, Centre for Molecular Medicine and Therapeutics

Academic Affiliations

Professor, Department of Medical Genetics, Faculty of Medicine, University of British Columbia

Contact

The Wasserman laboratory focuses on the creation, evaluation and application of computational methods for the analysis of genome sequences, with international strength in the study of cis-regulatory elements regulating gene expression. The lab creates widely used software and databases, performs applied analyses of genome sequences, and partners with diverse research teams on projects at the intersection of the computational and life sciences.

Genome Sequencing has disrupted health research. The lab has been developing computational methods and tools to allow researchers and clinicians to identify functional consequences of genetic variations within cis-regulatory elements such as transcription factor binding sites. Alterations in the TF bound DNA sequences can contribute causally to phenotypes, but much work remains to develop the essential computational methods to study them.

The lab studies gene regulation via multiple lines. First, the lab creates novel algorithms and software to predict interactions between TFs and DNA. Second, the lab collaborates internationally on the analysis of emerging data, such as the international FANTOM project. Third, the lab engages in the applied analysis of genomes for pediatric disorders. Such work is key to translating basic research advances into clinical impacts.

DeepCAGE Transcriptomics Reveal an Important Role of the Transcription Factor MAFB in the Lymphatic Endothelium.Dieterich LC and Klein S and Mathelier A and Sliwa-Primorac A and Ma Q and Hong YK and Shin JW and Hamada M and Lizio M and Itoh M and Kawaji H and Lassmann T and Daub CO and Arner E and Carninci P and Hayashizaki Y and Forrest AR and Wasserman WW and Detmar MDOI: 10.1016/j.celrep.2015.10.002PubMed: 2654946111/2015

PAX6 MiniPromoters drive restricted expression from rAAV in the adult mouse retina.Hickmott JW and Chen CY and Arenillas DJ and Korecki AJ and Lam SL and Molday LL and Bonaguro RJ and Zhou M and Chou AY and Mathelier A and Boye SL and Hauswirth WW and Molday RS and Wasserman WW and Simpson EMDOI: 10.1038/mtm.2016.51PubMed: 275560592016

Integration of genomics and metabolomics for prioritization of rare disease variants: a 2018 literature review.Journal of inherited metabolic diseaseGraham E and Lee J and Price M and Tarailo-Graovac M and Matthews A and Engelke U and Tang J and Kluijtmans LAJ and Wevers RA and Wasserman WW and van Karnebeek CDM and Mostafavi SDOI: 10.1007/s10545-018-0139-6PubMed: 2972191605/2018

Interfaces of Malignant and Immunologic Clonal Dynamics in Ovarian Cancer.CellZhang AW and McPherson A and Milne K and Kroeger DR and Hamilton PT and Miranda A and Funnell T and Little N and de Souza CPE and Laan S and LeDoux S and Cochrane DR and Lim JLP and Shah SPDOI: 10.1016/j.cell.2018.03.073PubMed: 2975482005/2018

Bone health and SATB2-associated syndrome.Clinical geneticsZarate YA and Steinraths M and Matthews A and Smith WE and Sun A and Wilson LC and Brain C and Allgove J and Jacobs B and Fish JL and Powell CM and Wasserman WW and van Karnebeek CD and Ma NSDOI: 10.1111/cge.13121PubMed: 2878708703/2018

The genotypic and phenotypic spectrum of MTO1 deficiency.Molecular genetics and metabolismO'Byrne JJ and Tarailo-Graovac M and Ghani A and Champion M and Deshpande C and Dursun A and Ozgul RK and Freisinger P and Garber I and Haack TB and Horvath R and Baric I and Husain RA and van Karnebeek CDMDOI: 10.1016/j.ymgme.2017.11.003PubMed: 2933117101/2018

The SIN3A histone deacetylase complex is required for a complete transcriptional response to hypoxia.Nucleic acids researchTiana M and Acosta-Iborra B and Puente-Santamaría L and Hernansanz-Agustin P and Worsley-Hunt R and Masson N and García-Rio F and Mole D and Ratcliffe P and Wasserman WW and Del Peso LDOI: 10.1093/nar/gkx951PubMed: 2905936501/2018

JASPAR 2018: update of the open-access database of transcription factor binding profiles and its web framework.Nucleic acids researchKhan A and Fornes O and Stigliani A and Gheorghe M and Castro-Mondragon JA and van der Lee R and Bessy A and Chèneby J and Kulkarni SR and Tan G and Baranasic D and Arenillas DJ and Mathelier ADOI: 10.1093/nar/gkx1126PubMed: 2914047301/2018

JASPAR 2018: update of the open-access database of transcription factor binding profiles and its web framework.Nucleic acids researchKhan A and Fornes O and Stigliani A and Gheorghe M and Castro-Mondragon JA and van der Lee R and Bessy A and Chèneby J and Kulkarni SR and Tan G and Baranasic D and Arenillas DJ and Mathelier ADOI: 10.1093/nar/gkx1188PubMed: 2916143301/2018

Improvement of Self-Injury With Dopamine and Serotonin Replacement Therapy in a Patient With a Hemizygous PAK3 Mutation: A New Therapeutic Strategy for Neuropsychiatric Features of an Intellectual Disability Syndrome.Journal of child neurologyHorvath GA and Tarailo-Graovac M and Bartel T and Race S and Van Allen MI and Blydt-Hansen I and Ross CJ and Wasserman WW and Connolly MB and van Karnebeek CDMDOI: 10.1177/0883073817740443PubMed: 2924609201/2018

A de novo mosaic mutation in SPAST with two novel alternative alleles and chromosomal copy number variant in a boy with spastic paraplegia and autism spectrum disorderEuropean Journal of Medical GeneticsA.M. Matthews and M. Tarailo-Graovac and E.M. Price and I. Blydt-Hansen and A. Ghani and B.I. Drögemöller and W.P. Robinson and C.J. Ross and W.W. Wasserman and H. Siden and C.D. van KarnebeekDOI: 10.1016/j.ejmg.2017.07.01510/2017

The SIN3A histone deacetylase complex is required for a complete transcriptional response to hypoxiaMaria Tiana Cerrolaza and Barbara Acosta-Iborra and Laura Puente-Santamaria and Pablo Hernansanz and Rebecca Worsley-Hunt and Norma Masson and Francisco Garcia-Rio and David R. Mole and Peter J. Ratcliffe and Wyeth W. Wasserman and Benilde Jimenez Cuenca and Luis del PesoDOI: 10.1101/18269109/2017

Corrigendum: NANS-mediated synthesis of sialic acid is required for brain and skeletal development.Nature geneticsvan Karnebeek CDM and Bonafé L and Wen XY and Tarailo-Graovac M and Balzano S and Royer-Bertrand B and Ashikov A and Garavelli L and Mammi I and Turolla L and Breen C and Donnai D and Superti-Furga ADOI: 10.1038/ng0617-969aPubMed: 2854657005/2017

Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation.Bourne SC and Townsend KN and Shyr C and Matthews A and Lear SA and Attariwala R and Lehman A and Wasserman WW and van Karnebeek C and Sinclair G and Vallance H and Gibson WTDOI: 10.1101/mcs.a001156PubMed: 2805059901/2017

YY1 binding association with sex-biased transcription revealed through X-linked transcript levels and allelic binding analyses.Chen CY and Shi W and Balaton BP and Matthews AM and Li Y and Arenillas DJ and Mathelier A and Itoh M and Kawaji H and Lassmann T and Hayashizaki Y and Carninci P and Forrest AR and Brown CJ and Wasserman WWDOI: 10.1038/srep37324PubMed: 2785718411/2016

Identification of non-coding genetic variants in samples from hypoxemic respiratory disease patients that affect the transcriptional response to hypoxia.Roche O and Deguiz ML and Tiana M and Galiana-Ribote C and Martinez-Alcazar D and Rey-Serra C and Ranz-Ribeiro B and Casitas R and Galera R and Fernández-Navarro I and Sánchez-Cuéllar S and Bernard V and Ancochea J and Wasserman WW and García-Rio F and Jimenez B and Del Peso LPubMed: 2762539811/2016

DNA Shape Features Improve Transcription Factor Binding Site Predictions In Vivo.Mathelier A and Xin B and Chiu TP and Yang L and Rohs R and Wasserman WWDOI: 10.1016/j.cels.2016.07.001PubMed: 2754679309/2016

Evaluating the impact of single nucleotide variants on transcription factor binding.Shi W and Fornes O and Mathelier A and Wasserman WWPubMed: 2749228808/2016

NANS-mediated synthesis of sialic acid is required for brain and skeletal development.van Karnebeek CD and Bonafé L and Wen XY and Tarailo-Graovac M and Balzano S and Royer-Bertrand B and Ashikov A and Garavelli L and Mammi I and Turolla L and Breen C and Donnai D and Cormier V and Heron D and Nishimura G and Uchikawa S and Campos-Xavier B and Rossi A and Hennet T and Brand-Arzamendi KDOI: 10.1038/ng.3578PubMed: 2721328907/2016

Exome Sequencing and the Management of Neurometabolic Disorders.Tarailo-Graovac M and Shyr C and Ross CJ and Horvath GA and Salvarinova R and Ye XC and Zhang LH and Bhavsar AP and Lee JJ and Drögemöller BI and Abdelsayed M and Alfadhel M and Armstrong L and Baumgartner MR and Burda P and Connolly MB and Cameron J and Demos M and Dewan T and Dionne JDOI: 10.1056/NEJMoa1515792PubMed: 2727656206/2016

DeepCAGE transcriptomics identify HOXD10 as transcription factor regulating lymphatic endothelial responses to VEGF-C.Klein S and Dieterich LC and Mathelier A and Chong C and Sliwa-Primorac A and Hong YK and Shin JW and Lizio M and Itoh M and Kawaji H and Lassmann T and Daub CO and Arner E and FANTOM consortium and Carninci P and Hayashizaki Y and Forrest AR and Wasserman WW and Detmar MPubMed: 2719937205/2016

JASPAR 2016: a major expansion and update of the open-access database of transcription factor binding profiles.Mathelier A and Fornes O and Arenillas DJ and Chen CY and Denay G and Lee J and Shi W and Shyr C and Tan G and Worsley-Hunt R and Zhang AW and Parcy F and Lenhard B and Sandelin A and Wasserman WWDOI: 10.1093/nar/gkv1176PubMed: 2653182601/2016

rAAV-compatible MiniPromoters for restricted expression in the brain and eye.de Leeuw CN and Korecki AJ and Berry GE and Hickmott JW and Lam SL and Lengyell TC and Bonaguro RJ and Borretta LJ and Chopra V and Chou AY and D'Souza CA and Kaspieva O and Laprise S and McInerny SC and Portales-Casamar E and Swanson-Newman MI and Wong K and Yang GS and Zhou M and Jones SJDOI: 10.1186/s13041-016-0232-4PubMed: 271649032016

De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.Langlois S and Tarailo-Graovac M and Sayson B and Drögemöller B and Swenerton A and Ross CJ and Wasserman WW and van Karnebeek CDPubMed: 2648647410/2015

Cisplatin Nephrotoxicity and Longitudinal Growth in Children With Solid Tumors: A Retrospective Cohort Study.Jiménez-Triana CA and Castelán-Martínez OD and Rivas-Ruiz R and Jiménez-Méndez R and Medina A and Clark P and Rassekh R and Castañeda-Hernández G and Carleton B and Medeiros M and Canadian Pharmacogenomics Network for Drug Safety ConsortiumDOI: 10.1097/MD.0000000000001413PubMed: 2631378908/2015

A SNP in the HTT promoter alters NF-¿B binding and is a bidirectional genetic modifier of Huntington disease.Becanovic K and Nørremølle A and Neal SJ and Kay C and Collins JA and Arenillas D and Lilja T and Gaudenzi G and Manoharan S and Doty CN and Beck J and Lahiri N and Portales-Casamar E and Warby SC and Connolly C and De Souza RA and REGISTRY Investigators of the European Huntington's Disease Network and Tabrizi SJ and Hermanson O and Langbehn DRDOI: 10.1038/nn.4014PubMed: 2593888406/2015

Expansion of the QARS deficiency phenotype with report of a family with isolated supratentorial brain abnormalities.Salvarinova R and Ye CX and Rossi A and Biancheri R and Roland EH and Pavlidis P and Ross CJ and Tarailo-Graovac M and Wasserman WW and van Karnebeek CDDOI: 10.1007/s10048-014-0432-yPubMed: 2543232004/2015

Genetic variants in SLC22A17 and SLC22A7 are associated with anthracycline-induced cardiotoxicity in children.Visscher H and Rassekh SR and Sandor GS and Caron HN and van Dalen EC and Kremer LC and van der Pal HJ and Rogers PC and Rieder MJ and Carleton BC and Hayden MR and Ross CJ and CPNDS consortiumDOI: 10.2217/pgs.15.61PubMed: 262306412015

The statistical geometry of transcriptome divergence in cell-type evolution and cancer.Liang C and FANTOM Consortium and Forrest AR and Wagner GPDOI: 10.1038/ncomms7066PubMed: 255858992015

The genotypic and phenotypic spectrum of PIGA deficiency.Tarailo-Graovac M and Sinclair G and Stockler-Ipsiroglu S and Van Allen M and Rozmus J and Shyr C and Biancheri R and Oh T and Sayson B and Lafek M and Ross CJ and Robinson WP and Wasserman WW and Rossi A and van Karnebeek CDDOI: 10.1186/s13023-015-0243-8PubMed: 258855272015

Discovery of molecular markers to discriminate corneal endothelial cells in the human body.Yoshihara M and Ohmiya H and Hara S and Kawasaki S and FANTOM consortium and Hayashizaki Y and Itoh M and Kawaji H and Tsujikawa M and Nishida KDOI: 10.1371/journal.pone.0117581PubMed: 258071452015

Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms.Sirrs S and van Karnebeek CD and Peng X and Shyr C and Tarailo-Graovac M and Mandal R and Testa D and Dubin D and Carbonetti G and Glynn SE and Sayson B and Robinson WP and Han B and Wishart D and Ross CJ and Wasserman WW and Hurwitz TA and Sinclair G and Kaczocha MDOI: 10.1186/s13023-015-0248-3PubMed: 258857832015

Cis-regulatory somatic mutations and gene-expression alteration in B-cell lymphomas.Mathelier A and Lefebvre C and Zhang AW and Arenillas DJ and Ding J and Wasserman WW and Shah SPDOI: 10.1186/s13059-015-0648-7PubMed: 259031982015

Differential roles of epigenetic changes and Foxp3 expression in regulatory T cell-specific transcriptional regulation.Morikawa H and Ohkura N and Vandenbon A and Itoh M and Nagao-Sato S and Kawaji H and Lassmann T and Carninci P and Hayashizaki Y and Forrest AR and Standley DM and Date H and Sakaguchi S and FANTOM ConsortiumDOI: 10.1073/pnas.1312717110PubMed: 2470690504/2014

Higher frequency of genetic variants conferring increased risk for ADRs for commonly used drugs treating cancer, AIDS and tuberculosis in persons of African descent.Aminkeng F and Ross CJ and Rassekh SR and Brunham LR and Sistonen J and Dube MP and Ibrahim M and Nyambo TB and Omar SA and Froment A and Bodo JM and Tishkoff S and Carleton BC and Hayden MR and Canadian Pharmacogenomics Network for Drug Safety ConsortiumDOI: 10.1038/tpj.2013.13PubMed: 2358810704/2014

DNAJC13 mutations in Parkinson disease.Vilariño-Güell C and Rajput A and Milnerwood AJ and Shah B and Szu-Tu C and Trinh J and Yu I and Encarnacion M and Munsie LN and Tapia L and Gustavsson EK and Chou P and Tatarnikov I and Evans DM and Pishotta FT and Volta M and Beccano-Kelly D and Thompson C and Lin MK and Sherman HEDOI: 10.1093/hmg/ddt570PubMed: 2421836404/2014

Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early ChildhoodThe American Journal of Human GeneticsClara D. van Karnebeek and William S. Sly and Colin J. Ross and Ramona Salvarinova and Joy Yaplito-Lee and Saikat Santra and Casper Shyr and Gabriella A. Horvath and Patrice Eydoux and Anna M. Lehman and Virginie Bernard and Theresa Newlove and Henry Ukpeh and Anupam Chakrapani and Mary Anne Preece and Sarah Ball and James Pitt and Hilary D. Vallance and Marion Coulter-Mackie and Hien Nguyen and Lin-Hua Zhang and Amit P. Bhavsar and Graham Sinclair and Abdul Waheed and Wyeth W. Wasserman and Sylvia Stockler-IpsirogluDOI: 10.1016/j.ajhg.2014.01.00603/2014

A promoter-level mammalian expression atlas.FANTOM Consortium and the RIKEN PMI and CLST (DGT) and Forrest AR and Kawaji H and Rehli M and Baillie JK and de Hoon MJ and Haberle V and Lassmann T and Kulakovskiy IV and Lizio M and Itoh M and Andersson R and Mungall CJ and Meehan TF and Schmeier S and Bertin N and Jørgensen M and Dimont E and Arner E and Schmidl CDOI: 10.1038/nature13182PubMed: 2467076403/2014

An atlas of active enhancers across human cell types and tissues.Andersson R and Gebhard C and Miguel-Escalada I and Hoof I and Bornholdt J and Boyd M and Chen Y and Zhao X and Schmidl C and Suzuki T and Ntini E and Arner E and Valen E and Li K and Schwarzfischer L and Glatz D and Raithel J and Lilje B and Rapin N and Bagger FODOI: 10.1038/nature12787PubMed: 2467076303/2014

Targeted CNS delivery using human MiniPromoters and demonstrated compatibility with adeno-associated viral vectorsMol Ther Methods Clin DevCharles N de Leeuw and Frank M Dyka and Sanford L Boye and Stéphanie Laprise and Michelle Zhou and Alice Y Chou and Lisa Borretta and Simone C McInerny and Kathleen G Banks and Elodie Portales-Casamar and Magdalena I Swanson and Cletus A D’Souza and Shannon E Boye and Steven JM Jones and Robert A Holt and Daniel Goldowitz and William W Hauswirth and Wyeth W Wasserman and Elizabeth M SimpsonDOI: 10.1038/mtm.2013.501/2014

JASPAR 2014: an extensively expanded and updated open-access database of transcription factor binding profiles.Mathelier A and Zhao X and Zhang AW and Parcy F and Worsley-Hunt R and Arenillas DJ and Buchman S and Chen CY and Chou A and Ienasescu H and Lim J and Shyr C and Tan G and Zhou M and Lenhard B and Sandelin A and Wasserman WWDOI: 10.1093/nar/gkt997PubMed: 2419459801/2014

TFBSshape: a motif database for DNA shape features of transcription factor binding sites.Yang L and Zhou T and Dror I and Mathelier A and Wasserman WW and Gordân R and Rohs RDOI: 10.1093/nar/gkt1087PubMed: 2421495501/2014

Ceruloplasmin is a novel adipokine which is overexpressed in adipose tissue of obese subjects and in obesity-associated cancer cells.Arner E and Forrest AR and Ehrlund A and Mejhert N and Itoh M and Kawaji H and Lassmann T and Laurencikiene J and Rydén M and Arner P and FANTOM ConsortiumDOI: 10.1371/journal.pone.0080274PubMed: 246763322014

Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic traffickingOrphanet Journal of Rare DiseasesSylvia Stockler and Silvia Corvera and David Lambright and Kevin Fogarty and Ekaterina Nosova and Deborah Leonard and Robert Steinfeld and Cameron Ackerley and Casper Shyr and Nicolas Au and Kathrin Selby and Margot van Allen and Hilary Vallance and Ron Wevers and David Watkins and David Rosenblatt and Colin J Ross and Elizabeth Conibear and Wyeth Wasserman and Clara van KarnebeekDOI: 10.1186/s13023-014-0141-52014

Portal for Families Overcoming Neurodevelopmental Disorders (PFOND): Implementation of a Software Framework for Facilitated Community Website Creation by Nontechnical Volunteers.Ye XC and Ng I and Seid-Karbasi P and Imam T and Lee CE and Chen SY and Herman A and Sharma B and Johal G and Gu B and Wasserman WWDOI: 10.2196/resprot.2675PubMed: 239200062013

The clonal and mutational evolution spectrum of primary triple-negative breast cancers.Shah SP and Roth A and Goya R and Oloumi A and Ha G and Zhao Y and Turashvili G and Ding J and Tse K and Haffari G and Bashashati A and Prentice LM and Khattra J and Burleigh A and Yap D and Bernard V and McPherson A and Shumansky K and Crisan A and Giuliany RDOI: 10.1038/nature10933PubMed: 2249531406/2012

Retina restored and brain abnormalities ameliorated by single-copy knock-in of human NR2E1 in null mice.Schmouth JF and Banks KG and Mathelier A and Gregory-Evans CY and Castellarin M and Holt RA and Gregory-Evans K and Wasserman WW and Simpson EMDOI: 10.1128/MCB.06016-11PubMed: 2229043604/2012

The transcription factor encyclopedia.Yusuf D and Butland SL and Swanson MI and Bolotin E and Ticoll A and Cheung WA and Zhang XY and Dickman CT and Fulton DL and Lim JS and Schnabl JM and Ramos OH and Vasseur-Cognet M and de Leeuw CN and Simpson EM and Ryffel GU and Lam EW and Kist R and Wilson MS and Marco-Ferreres RDOI: 10.1186/gb-2012-13-3-r24PubMed: 224585152012

VPS35 Mutations in Parkinson Disease.Vilari?o-G?ell C and Wider C and Ross O and Dachsel J and Kachergus J and Lincoln S and Soto-Ortolaza A and Cobb S and Wilhoite G and Bacon J and Behrouz B and Melrose H and Hentati E and Puschmann A and Evans D and Conibear E and Wasserman W and Aasly J and Burkhard P and Djaldetti RDOI: 10.1016/j.ajhg.2011.07.01808/2011

VPS35 mutations in Parkinson disease.Vilariño-Güell C and Wider C and Ross OA and Dachsel JC and Kachergus JM and Lincoln SJ and Soto-Ortolaza AI and Cobb SA and Wilhoite GJ and Bacon JA and Behrouz B and Melrose HL and Hentati E and Puschmann A and Evans DM and Conibear E and Wasserman WW and Aasly JO and Burkhard PR and Djaldetti RDOI: 10.1016/j.ajhg.2011.06.001PubMed: 2176348207/2011

MIR@NT@N: a framework integrating transcription factors, microRNAs and their targets to identify sub-network motifs in a meta-regulation network model.Le Béchec A and Portales-Casamar E and Vetter G and Moes M and Zindy PJ and Saumet A and Arenillas D and Theillet C and Wasserman WW and Lecellier CH and Friederich EDOI: 10.1186/1471-2105-12-67PubMed: 213757302011

A regulatory toolbox of MiniPromoters to drive selective expression in the brain.Portales-Casamar E and Swanson DJ and Liu L and de Leeuw CN and Banks KG and Ho Sui SJ and Fulton DL and Ali J and Amirabbasi M and Arenillas DJ and Babyak N and Black SF and Bonaguro RJ and Brauer E and Candido TR and Castellarin M and Chen J and Chen Y and Cheng JC and Chopra VDOI: 10.1073/pnas.1009158107PubMed: 2080774809/2010

Global mapping of binding sites for Nrf2 identifies novel targets in cell survival response through ChIP-Seq profiling and network analysis.Malhotra D and Portales-Casamar E and Singh A and Srivastava S and Arenillas D and Happel C and Shyr C and Wakabayashi N and Kensler TW and Wasserman WW and Biswal SDOI: 10.1093/nar/gkq212PubMed: 2046046709/2010

The Canadian Pharmacogenomics Network for Drug Safety: a model for safety pharmacology.Ross CJ and Visscher H and Sistonen J and Brunham LR and Pussegoda K and Loo TT and Rieder MJ and Koren G and Carleton BC and Hayden MR and CPNDS ConsortiumDOI: 10.1089/thy.2010.1642PubMed: 2057889307/2010

Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy.Ross CJ and Katzov-Eckert H and Dubé MP and Brooks B and Rassekh SR and Barhdadi A and Feroz-Zada Y and Visscher H and Brown AM and Rieder MJ and Rogers PC and Phillips MS and Carleton BC and Hayden MR and CPNDS ConsortiumDOI: 10.1038/ng.478PubMed: 1989848212/2009

The PAZAR database of gene regulatory information coupled to the ORCA toolkit for the study of regulatory sequences.Portales-Casamar E and Arenillas D and Lim J and Swanson MI and Jiang S and McCallum A and Kirov S and Wasserman WWDOI: 10.1093/nar/gkn783PubMed: 1897125301/2009

Transcriptional repression of microRNA genes by PML-RARA increases expression of key cancer proteins in acute promyelocytic leukemia.Saumet A and Vetter G and Bouttier M and Portales-Casamar E and Wasserman WW and Maurin T and Mari B and Barbry P and Vallar L and Friederich E and Arar K and Cassinat B and Chomienne C and Lecellier CHDOI: 10.1182/blood-2008-05-158139PubMed: 1894111201/2009

Identification of a set of genes showing regionally enriched expression in the mouse brain.D'Souza CA and Chopra V and Varhol R and Xie YY and Bohacec S and Zhao Y and Lee LL and Bilenky M and Portales-Casamar E and He A and Wasserman WW and Goldowitz D and Marra MA and Holt RA and Simpson EM and Jones SJDOI: 10.1186/1471-2202-9-66PubMed: 186250662008

PAZAR: a framework for collection and dissemination of cis-regulatory sequence annotation.Portales-Casamar E and Kirov S and Lim J and Lithwick S and Swanson MI and Ticoll A and Snoddy J and Wasserman WWDOI: 10.1186/gb-2007-8-10-r207PubMed: 179162322007

A new generation of JASPAR, the open-access repository for transcription factor binding site profiles.Vlieghe D and Sandelin A and De Bleser PJ and Vleminckx K and Wasserman WW and van Roy F and Lenhard BDOI: 10.1093/nar/gkj115PubMed: 1638198301/2006

Ulysses - an application for the projection of molecular interactions across species.Kemmer D and Huang Y and Shah SP and Lim J and Brumm J and Yuen MM and Ling J and Xu T and Wasserman WW and Ouellette BFDOI: 10.1186/gb-2005-6-12-r106PubMed: 163562692005

Arrays of ultraconserved non-coding regions span the loci of key developmental genes in vertebrate genomes.Sandelin A and Bailey P and Bruce S and Engström PG and Klos JM and Wasserman WW and Ericson J and Lenhard BDOI: 10.1186/1471-2164-5-99PubMed: 156132382004

Exploring the foundation of genomics: a northern blot reference set for the comparative analysis of transcript profiling technologies.Kemmer D and Faxén M and Hodges E and Lim J and Herzog E and Ljungström E and Lundmark A and Olsen MK and Podowski R and Sonnhammer EL and Nilsson P and Reimers M and Lenhard B and Roberds SL and Wahlestedt C and Höög C and Agarwal P and Wasserman WWDOI: 10.1002/cfg.443PubMed: 186291802004

Integrated analysis of yeast regulatory sequences for biologically linked clusters of genes.Sandelin A and Höglund A and Lenhard B and Wasserman WWDOI: 10.1007/s10142-003-0086-6PubMed: 1282752307/2003

NotI flanking sequences: a tool for gene discovery and verification of the human genome.Kutsenko AS and Gizatullin RZ and Al-Amin AN and Wang F and Kvasha SM and Podowski RM and Matushkin YG and Gyanchandani A and Muravenko OV and Levitsky VG and Kolchanov NA and Protopopov AI and Kashuba VI and Kisselev LL and Wasserman W and Wahlestedt C and Zabarovsky ERDOI: 10.1093/nar/gkf428PubMed: 1213609807/2002

Initial isolation and analysis of the human Kv1.7 (KCNA7) gene, a member of the voltage-gated potassium channel gene family.Kashuba VI and Kvasha SM and Protopopov AI and Gizatullin RZ and Rynditch AV and Wahlestedt C and Wasserman WW and Zabarovsky ERDOI: 10.1016/S0378-1119(01)00423-1PubMed: 1136890705/2001

The murine Bin1 gene functions early in myogenesis and defines a new region of synteny between mouse chromosome 18 and human chromosome 2.Mao NC and Steingrimsson E and DuHadaway J and Wasserman W and Ruiz JC and Copeland NG and Jenkins NA and Prendergast GCDOI: 10.1006/geno.1998.5709PubMed: 1003618502/1999

Organization of the ABCR gene: analysis of promoter and splice junction sequences.Allikmets R and Wasserman WW and Hutchinson A and Smallwood P and Nathans J and Rogan PK and Schneider TD and Dean MDOI: 10.1016/S0378-1119(98)00269-8PubMed: 966609707/1998

CBP/cycA, a CCAAT-binding protein necessary for adhesion-dependent cyclin A transcription, consists of NF-Y and a novel Mr 115,000 subunit.Krämer A and Carstens CP and Wasserman WW and Fahl WEPubMed: 937151211/1997

Comprehensive analysis of proteins which interact with the antioxidant responsive element: correlation of ARE-BP-1 with the chemoprotective induction response.Wasserman WW and Fahl WEDOI: 10.1006/abbi.1997.0215PubMed: 926455308/1997

Applied BioinformaticsAt the CMMT we maintain a strong link between research and application. We work closely with our collaborators to impact human health. At present we are engineering regulatory sequences to direct gene expression selectively to target cells and tissues in the CanEuCre/Pleiades Promoter Project. With partners at BC Children’s Hospital, we are developing methods for efficient analysis of exome and genome sequences for children with genetic disorders.

Identification and Analysis of Sequences Regulating TranscriptionRegulatory sequence analysis is complicated by a signal-to-noise problem. Transcription is regulated at one level by proteins that bind to short segments of DNA. These transcription factors activate or suppress gene activity by modulating the recruitment of RNA polymerase enzymes to the beginning of genes. As the target sequences for transcription factors are short, and transcription factors are tolerant of considerable variation in the sequences to which they bind, it is extremely difficult to distinguish functional binding sites in the vastness of the human genome.

Using high-throughput ChIP-Seq and chromatin property data, we are developing a new generation of bioinformatics methods for the identification of regulatory sequences. Our work is increasingly focused on coupling the regulatory region discrimination with the interpretation of mutations detected by whole genome sequencing.

A new study from BC Children’s, UBC and an international team of researchers published in the New England Journal of Medicine is the first to identify a rarely-seen type of DNA mutation as the cause of an inherited metabolic disorder.

We are pleased to congratulate the BC Children's and BC Women's investigators who were awarded funding through the highly competitive Canadian Institutes of Health Research (CIHR) Project Grant Fall 2018 competition.

On May 7, 100 students and their teachers from northeastern BC took part in a day of hands on science hosted by BC Children’s Hospital and the First Nations Healthy Authority at Mini Med School Fort St. John.

In collaboration with Genomics England, researchers at the BC Children’s Hospital Research Institute are launching a new project that will create a collective pool of 1100 patients with two subsets of rare diseases, intellectual disability and epileptic encephalopathies.

BC Children’s Hospital’s role as a national leader in the field of pediatric precision health was highlighted today with the announcement of the result of Genome Canada’s 2017 Large-Scale Applied Research Project competition.

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